Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
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|ClinicalTrials.gov Identifier: NCT02154711|
Recruitment Status : Completed
First Posted : June 3, 2014
Last Update Posted : August 11, 2020
The purpose of the study is to use a new research imaging technique, a kind of magnetic resonance imaging (MRI), to measure important metabolic features of muscle, including mitochondrial function, in people with mitochondrial disease and in healthy individuals. (Mitochondria are tiny organelles that generate energy for the body.)
It is hoped that this new strategy will help physicians to understand better the health problems of people with mitochondrial disease. Eventually, this could lead to better diagnostic and treatment approaches.
|Condition or disease|
There are two study-related visits.
The first visit is a "screening" visit to ensure eligibility. This includes fasting blood tests. The second visit is an MRI scanning session. This also takes around 2 - 3 hours, with no more than 1.5 hours spent in the actual MRI machine. It may be possible to complete these two visits on the same day. Otherwise, the MRI session should occur within 3 months of the screening visit. In addition, an optional physical capacity visit will occur on the same day as the MRI session.
|Study Type :||Observational|
|Estimated Enrollment :||120 participants|
|Official Title:||Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease|
|Study Start Date :||May 2014|
|Actual Primary Completion Date :||June 30, 2020|
|Actual Study Completion Date :||June 30, 2020|
Individuals with genetic diagnoses (nuclear or mitochondrial) of mitochondrial disease
Healthy individuals, without mitochondrial disease
- Creatine Recovery Time [ Time Frame: 15 minutes ]
- Phosphocreatine recovery time [ Time Frame: 15 minutes ]
Biospecimen Retention: Samples Without DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02154711
|United States, Pennsylvania|
|University of Pennsylvania|
|Philadelphia, Pennsylvania, United States, 19004|
|Principal Investigator:||Shana E McCormack, MD||University of Pennsylvania|